Explore the classification of rickets in this informative presentation, delving into the various variants and subtypes of this skeletal disorder. From nutritional rickets caused by vitamin D deficiency to genetic forms such as hypophosphatemic rickets, uncover the diverse etiologies and clinical presentations associated with each subtype. Gain insights into the diagnostic criteria, management approaches, and long-term implications for patients affected by different types of rickets.
2. MAIN CLASSES:
• Nutritional rickets/ Vit D deficiency
• Vitamin D dependent rickets
• Vit D resistant Rickets
• On the basis of biochemical profile:
- Calcipenic
-Phosphopenic
Inhibited Mineralization rickets
3. Nutritional Rickets
• Results due to inadequate sunlight exposure
or inadequate dietary intake of vitamin D.
• Presents as short stature and gait deformity in
children under 2 years of age.
• Tetany and seizures can be seen in infants.
4. Vitamin D dependent rickets
• Also known as calcipenic rickets.
• This arises due to defects in the synthesis of
active forms of vitamin D or defect in Vitamin
receptors.
• It is of two types:
• Type I: also known as pseudo vitamin D
deficiency Rickets.
• It is a type of autosomal recessive disorder.
5. • Type I rickets is caused due to deficiency in
alpha hydroxylase enzyme {converts 25(OH)Vit
d to 1,25 Di Vit D}
And 25- hydroxylase enzyme {converts Vit D
from skin to 25-OH-vit D
• Type II rickets is caused due to mutations in
the vitamin D receptor. It doesn’t respond to
Vit D treatment.
6. Vitamin D resistant rickets
• It is also known as familial/congenital
hypophosphatemic rickets.
• It is generally caused due to mutations
associated with phosphate regulating gene on
the x chromosome.
• It leads to hypophosphatemia and renal loss
of phosphorus, which ends up causing bone
mineralization defects.
7. • In this type, clacitriol levels are found to be
normal.
• It can be further divided into:
• X linked Dominant type of hypophosphatemia
• Autosomal dominant type
• Autosomal recessive type
• Hereditiary hypophosphatemia with
hypercalciuria
8. On the basis of biochemical profile:
• CALCIPENIC RICKETS:
• It results from inadequate vitamin D in the body.
Which leads to deficiency of calcium.
• It can be caused due to:
1. Diet low in calcium
2. Malabsorption oc calcium(cystic fibrosis or celiac
disease)
3. Due to genetic defect of vit D metabolism (Vit D
resistance)
9. 4. Secondary causes like antiepileptic drugs, liver
failure, renal tubular acidosis, corticosteroid
therapy.
• It eventually leads to an increase in
parathyroid hormone secretion.
• Causes hypophosphatemia.
10. • PHOSPHOPENIC RICKETS:
• Low serum phosphate levels.
• Phosphaturia, leading to defective mineralization
of growth plate.
• Caused by isolated phosphate loss mainly due to
genetic mutations.
• Other causes include low phosphorus intake,
increased phosphate wasting.
• Oncogenic rickets, fibrous dysplasia etc are also
causes.
11. • PTH remains slightly elevated or normal in
phosphopenic rickets. Calcium and Vit D levels
are usually normal.
Autosomal dominant: lower limb deformities,
tooth abscess and fractures are seen.
X linked Rickets: Bowing of legs is seen.
Dent Disease; XLR. Proteinuria, hypercalciuria is
seen.
12. • Tumor induced ostiomalacia: fractures, bone
pains. Usually seen in adults.
Inhibited Mineralization defect: growth plate
mineralization defect.
Ca and P levels are normal.
